Did you know ? If you order before Friday 14h we deliver 90PCT of the the time next Tuesday, GENTAUR another in time delivery

Rab GDP dissociation inhibitor alpha (Rab GDI alpha) (Guanosine diphosphate dissociation inhibitor 1) (GDI-1) (Oligophrenin-2) (Protein XAP-4)

 GDIA_HUMAN              Reviewed;         447 AA.
P31150; P50394; Q6FG50; Q7Z2G6; Q7Z2G9; Q7Z2H5; Q7Z2I6;
01-JUL-1993, integrated into UniProtKB/Swiss-Prot.
01-OCT-1996, sequence version 2.
25-OCT-2017, entry version 180.
RecName: Full=Rab GDP dissociation inhibitor alpha;
Short=Rab GDI alpha;
AltName: Full=Guanosine diphosphate dissociation inhibitor 1;
Short=GDI-1;
AltName: Full=Oligophrenin-2;
AltName: Full=Protein XAP-4;
Name=GDI1; Synonyms=GDIL, OPHN2, RABGDIA, XAP4;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].
PubMed=7849400; DOI=10.1007/BF00411459;
Sedlacek Z., Konecki D.S., Korn B., Klauck S.M., Poustka A.;
"Evolutionary conservation and genomic organization of XAP-4, an Xq28
located gene coding for a human rab GDP-dissociation inhibitor
(GDI).";
Mamm. Genome 5:633-639(1994).
[2]
NUCLEOTIDE SEQUENCE [MRNA].
TISSUE=Retina;
PubMed=7585614;
Nishimura N., Goji J., Nakamura H., Orita S., Takai Y., Sano K.;
"Cloning of a brain-type isoform of human Rab GDI and its expression
in human neuroblastoma cell lines and tumor specimens.";
Cancer Res. 55:5445-5450(1995).
[3]
NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].
PubMed=8733135; DOI=10.1093/hmg/5.5.659;
Chen E.Y., Zollo M., Mazzarella R.A., Ciccodicola A., Chen C.-N.,
Zuo L., Heiner C., Burough F.W., Ripetto M., Schlessinger D.,
D'Urso M.;
"Long-range sequence analysis in Xq28: thirteen known and six
candidate genes in 219.4 kb of high GC DNA between the RCP/GCP and
G6PD loci.";
Hum. Mol. Genet. 5:659-668(1996).
[4]
NUCLEOTIDE SEQUENCE [MRNA].
Feng Z., Zhang B., Zhou Y., Peng X., Yuan J., Qiang B.;
Submitted (JUL-2001) to the EMBL/GenBank/DDBJ databases.
[5]
NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].
PubMed=12777533; DOI=10.1093/molbev/msg134;
Kitano T., Schwarz C., Nickel B., Paeaebo S.;
"Gene diversity patterns at 10 X-chromosomal loci in humans and
chimpanzees.";
Mol. Biol. Evol. 20:1281-1289(2003).
[6]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.;
"Cloning of human full open reading frames in Gateway(TM) system entry
vector (pDONR201).";
Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases.
[7]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S.,
Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y.,
Phelan M., Farmer A.;
"Cloning of human full-length CDSs in BD Creator(TM) system donor
vector.";
Submitted (OCT-2004) to the EMBL/GenBank/DDBJ databases.
[8]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=15772651; DOI=10.1038/nature03440;
Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D.,
Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A.,
Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G.,
Jones M.C., Hurles M.E., Andrews T.D., Scott C.E., Searle S.,
Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R.,
Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L.,
Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A.,
Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S.,
Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R.,
Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M.,
Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N.,
Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D.,
Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W.,
Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C.,
Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C.,
Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S.,
Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S.,
Corby N., Connor R.E., David R., Davies J., Davis C., Davis J.,
Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S.,
Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I.,
Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L.,
Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P.,
Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S.,
Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A.,
Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J.,
Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J.,
Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S.,
de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z.,
Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C.,
Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W.,
Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D.,
Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H.,
McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T.,
Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I.,
Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N.,
Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J.,
Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E.,
Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S.,
Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K.,
Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D.,
Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R.,
Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T.,
Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S.,
Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L.,
Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A.,
Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L.,
Williams G., Williams L., Williamson A., Williamson H., Wilming L.,
Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H.,
Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A.,
Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F.,
Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A.,
Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T.,
Gibbs R.A., Beck S., Rogers J., Bentley D.R.;
"The DNA sequence of the human X chromosome.";
Nature 434:325-337(2005).
[9]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
Venter J.C.;
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
[10]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Brain, and Lung;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[11]
NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 143-181.
Hochgeschwender U.;
"Rapid identification of gene sequences for transcriptional map
assembly by direct cDNA screening of genomic reference libraries.";
Submitted (SEP-1994) to the EMBL/GenBank/DDBJ databases.
[12]
PROTEIN SEQUENCE OF 143-156; 174-193 AND 222-240, AND IDENTIFICATION
BY MASS SPECTROMETRY.
TISSUE=Brain, and Cajal-Retzius cell;
Lubec G., Vishwanath V.;
Submitted (MAR-2007) to UniProtKB.
[13]
NUCLEOTIDE SEQUENCE [MRNA] OF 328-436.
Bhat K.S.;
Submitted (NOV-1992) to the EMBL/GenBank/DDBJ databases.
[14]
PROTEIN SEQUENCE OF 349-361.
TISSUE=Keratinocyte;
PubMed=1286667; DOI=10.1002/elps.11501301199;
Rasmussen H.H., van Damme J., Puype M., Gesser B., Celis J.E.,
Vandekerckhove J.;
"Microsequences of 145 proteins recorded in the two-dimensional gel
protein database of normal human epidermal keratinocytes.";
Electrophoresis 13:960-969(1992).
[15]
TISSUE SPECIFICITY.
PubMed=7543319; DOI=10.1093/hmg/4.4.701;
Bachner D., Sedlacek Z., Korn B., Hameister H., Poustka A.;
"Expression patterns of two human genes coding for different rab GDP-
dissociation inhibitors (GDIs), extremely conserved proteins involved
in cellular transport.";
Hum. Mol. Genet. 4:701-708(1995).
[16]
INTERACTION WITH RHOH.
PubMed=11809807; DOI=10.1128/MCB.22.4.1158-1171.2002;
Li X., Bu X., Lu B., Avraham H., Flavell R.A., Lim B.;
"The hematopoiesis-specific GTP-binding protein RhoH is GTPase
deficient and modulates activities of other Rho GTPases by an
inhibitory function.";
Mol. Cell. Biol. 22:1158-1171(2002).
[17]
INTERACTION WITH RAB10, AND SUBCELLULAR LOCATION.
PubMed=19570034; DOI=10.1042/BJ20090624;
Chen Y., Deng Y., Zhang J., Yang L., Xie X., Xu T.;
"GDI-1 preferably interacts with Rab10 in insulin-stimulated GLUT4
translocation.";
Biochem. J. 422:229-235(2009).
[18]
IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
PubMed=21269460; DOI=10.1186/1752-0509-5-17;
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P.,
Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.;
"Initial characterization of the human central proteome.";
BMC Syst. Biol. 5:17-17(2011).
[19]
INTERACTION WITH RAB1A AND RAB5A, AND FUNCTION.
PubMed=23815289; DOI=10.3109/09687688.2013.818725;
Kirsten M.L., Baron R.A., Seabra M.C., Ces O.;
"Rab1a and Rab5a preferentially bind to binary lipid compositions with
higher stored curvature elastic energy.";
Mol. Membr. Biol. 30:303-314(2013).
[20]
IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
TISSUE=Liver;
PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D.,
Wang L., Ye M., Zou H.;
"An enzyme assisted RP-RPLC approach for in-depth analysis of human
liver phosphoproteome.";
J. Proteomics 96:253-262(2014).
[21]
VARIANT MRX41 PRO-92.
PubMed=9620768; DOI=10.1038/487;
D'Adamo P., Menegon A., Lo Nigro C., Grasso M., Gulisano M.,
Tamanini F., Bienvenu T., Gedeon A.K., Oostra B., Wu S.-K., Tandon A.,
Valtorta F., Balch W.E., Chelly J., Toniolo D.;
"Mutations in GDI1 are responsible for X-linked non-specific mental
retardation.";
Nat. Genet. 19:134-139(1998).
[22]
VARIANT MRX41 PRO-423.
PubMed=9668174; DOI=10.1093/hmg/7.8.1311;
Bienvenu T., Des Portes V., Saint Martin A., McDonell N., Billuart P.,
Carrie A., Vinet M.-C., Couvert P., Toniolo D., Ropers H.-H.,
Moraine C., van Bokhoven H., Fryns J.-P., Kahn A., Beldjord C.,
Chelly J.;
"Non-specific X-linked semidominant mental retardation by mutations in
a Rab GDP-dissociation inhibitor.";
Hum. Mol. Genet. 7:1311-1315(1998).
-!- FUNCTION: Regulates the GDP/GTP exchange reaction of most Rab
proteins by inhibiting the dissociation of GDP from them, and the
subsequent binding of GTP to them. Promotes the dissociation of
GDP-bound Rab proteins from the membrane and inhibits their
activation. Promotes the dissociation of RAB1A, RAB3A, RAB5A and
RAB10 from membranes. {ECO:0000269|PubMed:23815289}.
-!- SUBUNIT: Interacts with RHOH. Interacts with RAB1A, RAB3A, RAB5A
and RAB10. {ECO:0000269|PubMed:11809807,
ECO:0000269|PubMed:19570034, ECO:0000269|PubMed:23815289}.
-!- INTERACTION:
Q8TBB1:LNX1; NbExp=6; IntAct=EBI-946999, EBI-739832;
P61027:Rab10 (xeno); NbExp=3; IntAct=EBI-946999, EBI-911581;
P62820:RAB1A; NbExp=2; IntAct=EBI-946999, EBI-716845;
P20338:RAB4A; NbExp=3; IntAct=EBI-946999, EBI-722284;
-!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:19570034}.
Golgi apparatus, trans-Golgi network
{ECO:0000269|PubMed:19570034}.
-!- TISSUE SPECIFICITY: Brain; predominant in neural and sensory
tissues. {ECO:0000269|PubMed:7543319}.
-!- DISEASE: Mental retardation, X-linked 41 (MRX41) [MIM:300849]: A
disorder characterized by significantly below average general
intellectual functioning associated with impairments in adaptive
behavior and manifested during the developmental period.
Intellectual deficiency is the only primary symptom of non-
syndromic X-linked mental retardation, while syndromic mental
retardation presents with associated physical, neurological and/or
psychiatric manifestations. {ECO:0000269|PubMed:9620768,
ECO:0000269|PubMed:9668174}. Note=The disease is caused by
mutations affecting the gene represented in this entry.
-!- SIMILARITY: Belongs to the Rab GDI family. {ECO:0000305}.
-----------------------------------------------------------------------
Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms
Distributed under the Creative Commons Attribution-NoDerivs License
-----------------------------------------------------------------------
EMBL; X79353; CAA55908.1; -; mRNA.
EMBL; X79354; CAA55909.1; -; Genomic_DNA.
EMBL; X79355; CAA55909.1; JOINED; Genomic_DNA.
EMBL; X79356; CAA55909.1; JOINED; Genomic_DNA.
EMBL; X79357; CAA55909.1; JOINED; Genomic_DNA.
EMBL; X79358; CAA55909.1; JOINED; Genomic_DNA.
EMBL; X79359; CAA55909.1; JOINED; Genomic_DNA.
EMBL; X79360; CAA55909.1; JOINED; Genomic_DNA.
EMBL; X79364; CAA55909.1; JOINED; Genomic_DNA.
EMBL; X79361; CAA55909.1; JOINED; Genomic_DNA.
EMBL; X79362; CAA55909.1; JOINED; Genomic_DNA.
EMBL; X79363; CAA55909.1; JOINED; Genomic_DNA.
EMBL; D45021; BAA08078.1; -; mRNA.
EMBL; L44140; AAA92648.1; -; Genomic_DNA.
EMBL; AF400433; AAK92482.1; -; mRNA.
EMBL; AB101741; BAC80330.1; -; Genomic_DNA.
EMBL; AB101742; BAC80331.1; -; Genomic_DNA.
EMBL; AB101743; BAC80332.1; -; Genomic_DNA.
EMBL; AB101744; BAC80333.1; -; Genomic_DNA.
EMBL; AB101745; BAC80334.1; -; Genomic_DNA.
EMBL; AB101746; BAC80335.1; -; Genomic_DNA.
EMBL; AB101747; BAC80336.1; -; Genomic_DNA.
EMBL; AB101748; BAC80337.1; -; Genomic_DNA.
EMBL; AB101749; BAC80338.1; -; Genomic_DNA.
EMBL; AB101750; BAC80339.1; -; Genomic_DNA.
EMBL; AB101751; BAC80340.1; -; Genomic_DNA.
EMBL; AB101752; BAC80341.1; -; Genomic_DNA.
EMBL; AB101753; BAC80342.1; -; Genomic_DNA.
EMBL; AB101754; BAC80343.1; -; Genomic_DNA.
EMBL; AB101755; BAC80344.1; -; Genomic_DNA.
EMBL; AB101756; BAC80345.1; -; Genomic_DNA.
EMBL; AB101757; BAC80346.1; -; Genomic_DNA.
EMBL; AB101758; BAC80347.1; -; Genomic_DNA.
EMBL; AB101759; BAC80348.1; -; Genomic_DNA.
EMBL; AB101760; BAC80349.1; -; Genomic_DNA.
EMBL; AB101771; BAC80360.1; -; Genomic_DNA.
EMBL; AB101772; BAC80361.1; -; Genomic_DNA.
EMBL; AB101773; BAC80362.1; -; Genomic_DNA.
EMBL; AB101774; BAC80363.1; -; Genomic_DNA.
EMBL; AB101775; BAC80364.1; -; Genomic_DNA.
EMBL; AB101776; BAC80365.1; -; Genomic_DNA.
EMBL; AB101777; BAC80366.1; -; Genomic_DNA.
EMBL; AB101778; BAC80367.1; -; Genomic_DNA.
EMBL; AB101779; BAC80368.1; -; Genomic_DNA.
EMBL; AB101780; BAC80369.1; -; Genomic_DNA.
EMBL; AB101781; BAC80370.1; -; Genomic_DNA.
EMBL; AB101782; BAC80371.1; -; Genomic_DNA.
EMBL; AB101783; BAC80372.1; -; Genomic_DNA.
EMBL; AB101784; BAC80373.1; -; Genomic_DNA.
EMBL; AB101785; BAC80374.1; -; Genomic_DNA.
EMBL; AB101786; BAC80375.1; -; Genomic_DNA.
EMBL; AB101787; BAC80376.1; -; Genomic_DNA.
EMBL; AB101788; BAC80377.1; -; Genomic_DNA.
EMBL; AB101789; BAC80378.1; -; Genomic_DNA.
EMBL; AB101790; BAC80379.1; -; Genomic_DNA.
EMBL; AB101801; BAC80390.1; -; Genomic_DNA.
EMBL; AB101802; BAC80391.1; -; Genomic_DNA.
EMBL; AB101803; BAC80392.1; -; Genomic_DNA.
EMBL; AB101804; BAC80393.1; -; Genomic_DNA.
EMBL; AB101805; BAC80394.1; -; Genomic_DNA.
EMBL; AB101806; BAC80395.1; -; Genomic_DNA.
EMBL; AB101807; BAC80396.1; -; Genomic_DNA.
EMBL; AB101808; BAC80397.1; -; Genomic_DNA.
EMBL; AB101809; BAC80398.1; -; Genomic_DNA.
EMBL; AB101810; BAC80399.1; -; Genomic_DNA.
EMBL; AB101811; BAC80400.1; -; Genomic_DNA.
EMBL; AB101812; BAC80401.1; -; Genomic_DNA.
EMBL; AB101813; BAC80402.1; -; Genomic_DNA.
EMBL; AB101814; BAC80403.1; -; Genomic_DNA.
EMBL; AB101815; BAC80404.1; -; Genomic_DNA.
EMBL; AB101816; BAC80405.1; -; Genomic_DNA.
EMBL; AB101817; BAC80406.1; -; Genomic_DNA.
EMBL; AB101818; BAC80407.1; -; Genomic_DNA.
EMBL; AB101819; BAC80408.1; -; Genomic_DNA.
EMBL; AB101820; BAC80409.1; -; Genomic_DNA.
EMBL; AB101831; BAC80420.1; -; Genomic_DNA.
EMBL; AB101832; BAC80421.1; -; Genomic_DNA.
EMBL; AB101833; BAC80422.1; -; Genomic_DNA.
EMBL; AB101834; BAC80423.1; -; Genomic_DNA.
EMBL; AB101835; BAC80424.1; -; Genomic_DNA.
EMBL; AB101836; BAC80425.1; -; Genomic_DNA.
EMBL; AB101837; BAC80426.1; -; Genomic_DNA.
EMBL; AB101838; BAC80427.1; -; Genomic_DNA.
EMBL; AB101839; BAC80428.1; -; Genomic_DNA.
EMBL; AB101840; BAC80429.1; -; Genomic_DNA.
EMBL; AB101841; BAC80430.1; -; Genomic_DNA.
EMBL; AB101842; BAC80431.1; -; Genomic_DNA.
EMBL; AB101843; BAC80432.1; -; Genomic_DNA.
EMBL; AB101844; BAC80433.1; -; Genomic_DNA.
EMBL; AB101845; BAC80434.1; -; Genomic_DNA.
EMBL; AB101846; BAC80435.1; -; Genomic_DNA.
EMBL; AB101847; BAC80436.1; -; Genomic_DNA.
EMBL; AB101848; BAC80437.1; -; Genomic_DNA.
EMBL; AB101849; BAC80438.1; -; Genomic_DNA.
EMBL; AB101850; BAC80439.1; -; Genomic_DNA.
EMBL; AB102647; BAC81116.1; -; mRNA.
EMBL; CR542258; CAG47054.1; -; mRNA.
EMBL; CR542276; CAG47072.1; -; mRNA.
EMBL; BT019884; AAV38687.1; -; mRNA.
EMBL; BX936385; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; CH471172; EAW72710.1; -; Genomic_DNA.
EMBL; BC000317; AAH00317.1; -; mRNA.
EMBL; BC012201; AAH12201.1; -; mRNA.
EMBL; U14623; AAA21558.1; -; Genomic_DNA.
EMBL; L05086; AAC15851.1; -; mRNA.
CCDS; CCDS35452.1; -.
PIR; I37082; I37082.
RefSeq; NP_001484.1; NM_001493.2.
UniGene; Hs.595950; -.
UniGene; Hs.74576; -.
ProteinModelPortal; P31150; -.
SMR; P31150; -.
BioGrid; 108932; 84.
IntAct; P31150; 36.
MINT; MINT-2859157; -.
STRING; 9606.ENSP00000394071; -.
iPTMnet; P31150; -.
PhosphoSitePlus; P31150; -.
SwissPalm; P31150; -.
BioMuta; GDI1; -.
DMDM; 1707886; -.
OGP; P31150; -.
REPRODUCTION-2DPAGE; IPI00010154; -.
UCD-2DPAGE; P31150; -.
EPD; P31150; -.
MaxQB; P31150; -.
PaxDb; P31150; -.
PeptideAtlas; P31150; -.
PRIDE; P31150; -.
DNASU; 2664; -.
Ensembl; ENST00000447750; ENSP00000394071; ENSG00000203879.
GeneID; 2664; -.
KEGG; hsa:2664; -.
UCSC; uc004fli.5; human.
CTD; 2664; -.
DisGeNET; 2664; -.
EuPathDB; HostDB:ENSG00000203879.11; -.
GeneCards; GDI1; -.
H-InvDB; HIX0056464; -.
HGNC; HGNC:4226; GDI1.
HPA; CAB012979; -.
HPA; HPA049290; -.
HPA; HPA057668; -.
MalaCards; GDI1; -.
MIM; 300104; gene.
MIM; 300849; phenotype.
neXtProt; NX_P31150; -.
OpenTargets; ENSG00000203879; -.
Orphanet; 777; X-linked non-syndromic intellectual disability.
PharmGKB; PA28641; -.
eggNOG; KOG1439; Eukaryota.
eggNOG; COG5044; LUCA.
GeneTree; ENSGT00530000063044; -.
HOVERGEN; HBG000839; -.
InParanoid; P31150; -.
KO; K17255; -.
OMA; EDPATHQ; -.
OrthoDB; EOG091G06PV; -.
PhylomeDB; P31150; -.
TreeFam; TF300449; -.
Reactome; R-HSA-194840; Rho GTPase cycle.
Reactome; R-HSA-8876198; RAB GEFs exchange GTP for GDP on RABs.
ChiTaRS; GDI1; human.
GeneWiki; GDI1; -.
GenomeRNAi; 2664; -.
PRO; PR:P31150; -.
Proteomes; UP000005640; Chromosome X.
Bgee; ENSG00000203879; -.
CleanEx; HS_GDI1; -.
ExpressionAtlas; P31150; baseline and differential.
Genevisible; P31150; HS.
GO; GO:0030424; C:axon; IEA:Ensembl.
GO; GO:0005737; C:cytoplasm; IDA:LIFEdb.
GO; GO:0005829; C:cytosol; TAS:Reactome.
GO; GO:0005794; C:Golgi apparatus; IEA:UniProtKB-SubCell.
GO; GO:0030496; C:midbody; IDA:UniProtKB.
GO; GO:0043209; C:myelin sheath; IEA:Ensembl.
GO; GO:0043025; C:neuronal cell body; IEA:Ensembl.
GO; GO:0043234; C:protein complex; IEA:Ensembl.
GO; GO:0005092; F:GDP-dissociation inhibitor activity; TAS:ProtInc.
GO; GO:0005096; F:GTPase activator activity; IEA:UniProtKB-KW.
GO; GO:0005093; F:Rab GDP-dissociation inhibitor activity; ISS:UniProtKB.
GO; GO:0017137; F:Rab GTPase binding; IEA:Ensembl.
GO; GO:0061024; P:membrane organization; TAS:Reactome.
GO; GO:0050771; P:negative regulation of axonogenesis; ISS:UniProtKB.
GO; GO:0090315; P:negative regulation of protein targeting to membrane; IMP:UniProtKB.
GO; GO:0045773; P:positive regulation of axon extension; IEA:Ensembl.
GO; GO:0015031; P:protein transport; IEA:InterPro.
GO; GO:0032482; P:Rab protein signal transduction; ISS:UniProtKB.
GO; GO:0051056; P:regulation of small GTPase mediated signal transduction; TAS:Reactome.
GO; GO:0051592; P:response to calcium ion; IEA:Ensembl.
GO; GO:0007165; P:signal transduction; TAS:ProtInc.
Gene3D; 3.50.50.60; -; 1.
InterPro; IPR036188; FAD/NAD-bd_sf.
InterPro; IPR018203; GDP_dissociation_inhibitor.
InterPro; IPR000806; RabGDI.
PANTHER; PTHR11787; PTHR11787; 1.
Pfam; PF00996; GDI; 1.
PRINTS; PR00892; RABGDI.
PRINTS; PR00891; RABGDIREP.
SUPFAM; SSF51905; SSF51905; 2.
1: Evidence at protein level;
Complete proteome; Cytoplasm; Direct protein sequencing;
Disease mutation; Golgi apparatus; GTPase activation;
Mental retardation; Reference proteome.
CHAIN 1 447 Rab GDP dissociation inhibitor alpha.
/FTId=PRO_0000056671.
VARIANT 92 92 L -> P (in MRX41; causes reduced binding
and recycling of RAB3A;
dbSNP:rs121434607).
{ECO:0000269|PubMed:9620768}.
/FTId=VAR_008130.
VARIANT 423 423 R -> P (in MRX41; dbSNP:rs121434609).
{ECO:0000269|PubMed:9668174}.
/FTId=VAR_008131.
CONFLICT 34 34 D -> G (in Ref. 2; BAA08078).
{ECO:0000305}.
CONFLICT 36 36 N -> K (in Ref. 2; BAA08078).
{ECO:0000305}.
CONFLICT 149 151 NFD -> GTY (in Ref. 2; BAA08078).
{ECO:0000305}.
CONFLICT 347 347 G -> V (in Ref. 13; AAC15851).
{ECO:0000305}.
CONFLICT 409 409 H -> Q (in Ref. 13; AAC15851).
{ECO:0000305}.
CONFLICT 416 416 D -> G (in Ref. 13; AAC15851).
{ECO:0000305}.
CONFLICT 442 442 F -> S (in Ref. 2; BAA08078).
{ECO:0000305}.
SEQUENCE 447 AA; 50583 MW; BC283A445E50A652 CRC64;
MDEEYDVIVL GTGLTECILS GIMSVNGKKV LHMDRNPYYG GESSSITPLE ELYKRFQLLE
GPPESMGRGR DWNVDLIPKF LMANGQLVKM LLYTEVTRYL DFKVVEGSFV YKGGKIYKVP
STETEALASN LMGMFEKRRF RKFLVFVANF DENDPKTFEG VDPQTTSMRD VYRKFDLGQD
VIDFTGHALA LYRTDDYLDQ PCLETVNRIK LYSESLARYG KSPYLYPLYG LGELPQGFAR
LSAIYGGTYM LNKPVDDIIM ENGKVVGVKS EGEVARCKQL ICDPSYIPDR VRKAGQVIRI
ICILSHPIKN TNDANSCQII IPQNQVNRKS DIYVCMISYA HNVAAQGKYI AIASTTVETT
DPEKEVEPAL ELLEPIDQKF VAISDLYEPI DDGCESQVFC SCSYDATTHF ETTCNDIKDI
YKRMAGTAFD FENMKRKQND VFGEAEQ


Related products :

Catalog number Product name Quantity
18-003-42974 Rab GDP dissociation inhibitor alpha - Rab GDI alpha; Guanosine diphosphate dissociation inhibitor 1; GDI-1; XAP-4; Oligophrenin-2 Polyclonal 0.1 mg Protein A
18-003-42973 Rab GDP dissociation inhibitor alpha - Rab GDI alpha; Guanosine diphosphate dissociation inhibitor 1; GDI-1; XAP-4; Oligophrenin-2 Polyclonal 0.1 mg Protein A
15-288-22125B Rab GDP dissociation inhibitor beta - Rab GDI beta; Guanosine diphosphate dissociation inhibitor 2; GDI-2 Polyclonal 0.1 mg
15-288-22125B Rab GDP dissociation inhibitor beta - Rab GDI beta; Guanosine diphosphate dissociation inhibitor 2; GDI-2 Polyclonal 0.05 mg
15-288-22125A Rab GDP dissociation inhibitor beta - Rab GDI beta; Guanosine diphosphate dissociation inhibitor 2; GDI-2 Polyclonal 0.1 mg
15-288-22125A Rab GDP dissociation inhibitor beta - Rab GDI beta; Guanosine diphosphate dissociation inhibitor 2; GDI-2 Polyclonal 0.05 mg
18-003-43296 Rab GDP dissociation inhibitor beta - Rab GDI beta; Guanosine diphosphate dissociation inhibitor 2; GDI-2 Polyclonal 0.05 mg Aff Pur
10-288-22125F Rab GDP dissociation inhibitor beta - Rab GDI beta; Guanosine diphosphate dissociation inhibitor 2; GDI-2 0.1 mg
10-288-22125F Rab GDP dissociation inhibitor beta - Rab GDI beta; Guanosine diphosphate dissociation inhibitor 2; GDI-2 0.05 mg
pro-002 Recombinant Human Rho GDP Dissociation Inhibitor (GDI) Alpha 5
E02R0341 Rat Rho GDP Dissociation Inhibitor Alpha ELISA 96T/kit
EH2664 Rho GDP Dissociation Inhibitor Alpha Elisa Kit 96T
RPR-002 Recombinant Human Rho GDP Dissociation Inhibitor (GDI) Alpha 5
pro-002 Recombinant Human Rho GDP Dissociation Inhibitor (GDI) Alpha 1mg
pro-002 Recombinant Human Rho GDP Dissociation Inhibitor (GDI) Alpha 20
E12R0341 Chicken Rho GDP Dissociation Inhibitor Alpha ELISA 96T/kit
ARHGDIG ARHGDIA Gene Rho GDP dissociation inhibitor (GDI) alpha
CSB-EL009353DO Dog Rab GDP dissociation inhibitor alpha(GDI1) ELISA kit 96T
E11R0341 Bovine Rho GDP Dissociation Inhibitor Alpha ELISA 96T/kit
E08R0341 Canine Rho GDP Dissociation Inhibitor Alpha ELISA 96T/kit
201-20-0415 ARHGDIA{Rho GDP dissociation inhibitor (GDI) alpha}rabbit.pAb 0.1ml
E09R0341 Monkey Rho GDP Dissociation Inhibitor Alpha ELISA 96T/kit
CSB-EL009353RA Rat Rab GDP dissociation inhibitor alpha(GDI1) ELISA kit 96T
pro-002 Recombinant Human Rho GDP Dissociation Inhibitor (GDI) Alpha ARHGDIA 1mg
E02R0341 Rat Rho GDP Dissociation Inhibitor Alpha ELISA , ARHGDIa 96 Tests/kit


 

GENTAUR Belgium BVBA BE0473327336
Voortstraat 49, 1910 Kampenhout BELGIUM
Tel 0032 16 58 90 45

Fax 0032 16 50 90 45
info@gentaur.com | Gentaur





GENTAUR Ltd.
Howard Frank Turnberry House
1404-1410 High Road
Whetstone London N20 9BH
Tel 020 3393 8531 Fax 020 8445 9411
uk@gentaur.com | Gentaur

 

 




GENTAUR France SARL
9, rue Lagrange, 75005 Paris
Tel 01 43 25 01 50

Fax 01 43 25 01 60
RCS Paris B 484 237 888

SIRET 48423788800017

BNP PARIBAS PARIS PL MAUBERT BIC BNPAFRPPPRG

france@gentaur.com | Gentaur

GENTAUR GmbH
Marienbongard 20
52062 Aachen Deutschland
Support Karolina Elandt
Tel: 0035929830070
Fax: (+49) 241 56 00 47 88

Logistic :0241 40 08 90 86
Bankleitzahl 39050000
IBAN lautet DE8839050000107569353
Handelsregister Aachen HR B 16058
Umsatzsteuer-Identifikationsnummer *** DE 815175831
Steuernummer 201/5961/3925
de@gentaur.com | Gentaur

GENTAUR U.S.A
Genprice Inc, Logistics
547, Yurok Circle
San Jose, CA 95123
CA 95123
Tel (408) 780-0908,
Fax (408) 780-0908,
sales@genprice.com

Genprice Inc, Invoices and accounting
6017 Snell Ave, Ste 357
San Jose, CA 95123




GENTAUR Nederland BV
NL850396268B01 KVK nummer 52327027
Kuiper 1
5521 DG Eersel Nederland
Tel:  0208-080893  Fax: 0497-517897
nl@gentaur.com | Gentaur
IBAN: NL04 RABO 0156 9854 62   SWIFT RABONL2U






GENTAUR Spain
tel:0911876558
spain@gentaur.com | Gentaur






ГЕНТАУЪР БЪЛГАРИЯ
ID # 201 358 931 /BULSTAT
София 1000, ул. "Граф Игнатиев" 53 вх. В, ет. 2
Tel 0035924682280 Fax 0035924808322
e-mail: Sofia@gentaur.com | Gentaur
IBAN: BG11FINV91501014771636
BIC: FINVBGSF

GENTAUR Poland Sp. z o.o.


ul. Grunwaldzka 88/A m.2
81-771 Sopot, Poland
TEL Gdansk 058 710 33 44 FAX  058 710 33 48              

poland@gentaur.com | Gentaur

Other countries

Österreich +43720880899

Canada Montreal +15149077481

Ceská republika Praha +420246019719

Danmark +4569918806

Finland Helsset +358942419041

Magyarország Budapest +3619980547

Ireland Dublin+35316526556

Luxembourg+35220880274

Norge Oslo+4721031366

Sverige Stockholm+46852503438

Schweiz Züri+41435006251

US New York+17185132983

GENTAUR Italy
SRL IVA IT03841300167
Piazza Giacomo Matteotti, 6
24122 Bergamo Tel 02 36 00 65 93
Fax 02 36 00 65 94
italia@gentaur.com | Gentaur